ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5824del (p.Val1942fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003531109 SCV004310166 pathogenic Hereditary breast ovarian cancer syndrome 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10644434, 29084914). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1942Phefs*21) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).

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